Schwartz-Jampel syndrome: a case report. Stimulatory effect of calcium and A23187 calcium ionophore for protein synthesis in muscle cell cultures.
This report describes a 3-year-old male patient with dwarfism, generalized muscular hypertrophy, stiffness, myotonia, multiple skeletal deformities and normal intelligence. Serum creatine kinase was twice elevated. EMG showed 'dive bomber' discharges and muscle biopsy revealed mild to moderate myopathic changes with variability in fiber size and 'moth-eaten' fibers. Multiple muscle cell cultures showed significantly lower values of total protein synthesis as determined by (3H)-leucine incorporation. The addition of calcium and/or A23187 calcium ionophore to cultures significantly stimulated total protein synthesis in contrast to the lack of effect of these drugs in control cultures. These findings suggest a dysfunction of muscle sarcolemma in Schwartz-Jampel syndrome.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000900:Anti-Bacterial Agents / Q000494:pharmacology*; D000001:Calcimycin / Q000494:pharmacology*; D002118:Calcium / Q000494:pharmacology*; D002675:Child, Preschool; D004392:Dwarfism / Q000209:etiology*; D006618:Hip Dislocation, Congenital / Q000175:diagnosis; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000096:biosynthesis*; D009224:Myotonia Congenita / Q000209:etiology*; D013577:Syndrome
D000900:Anti-Bacterial Agents; D009124:Muscle Proteins; D000001:Calcimycin; D002118:Calcium